ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826754712
Gene: HELLS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1586082
ClinVar RCV Id:
RCV002098009
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275999.1:p.Arg53Cys
CA5615186
NM_001289070.2:c.157C>T